What is Cystic Fibrosis?

Cystic Fibrosis (CF) is a chronic, progressive and life-limiting genetic disease that impacts the lungs, digestive and reproductive systems, and sweat glands. CF affects the body’s ability to move salt and water in and out of cells, which causes production of thick mucus that blocks passageways. In the lungs, this mucus creates an ideal environment for bacterial growth, which results in frequent lung infections, breathing difficulties and eventually permanent lung damage.

Because the gastrointestinal (GI) system is also affected, children with CF often suffer with malnutrition, poor growth and general GI dysfunction. Other co-morbidities include sinus problems, diabetes, depression, osteoporosis and liver disease.

Most CF patients (88%) in the U.S are registered and treated through the Cystic Fibrosis Care Center Network, a part of the Cystic Fibrosis Foundation, consisting of 110+ treatment centers.

The Genetics of CF

The CF gene, located on chromosome 7, was first identified in 1989 and is thousands of years old. While over 1,800 mutations of this gene have been described, most are very rare. Over 80% of U.S. CF patients have a delta F508CFTR (∆F508 for short) mutation. This consists of a deletion of three base pairs in the gene, causing a loss of an amino acid in the CF transmembrane regulator protein.

CF is inherited in an autosomal recessive pattern, which means that two copies of the faulty gene must be present. Two CF carriers have a 1 in 4 chance of having a CF child.

Even with the exact same genetic mutation, CF affects patients differently and to varying degrees. Some have serious symptoms from birth; others have mild disease that shows up in teenage years.
It is believed that other unidentified genes modify the CF gene and determine disease severity.

Cystic Fibrosis: Diagnosis

Newborn screening for genetic disorders (including CF) is now performed in all 50 states, utilizing the immunoreactive trypsinogen test. As of 2009, about one-half of U.S. CF patients were diagnosed by newborn screening.

An easy, reliable test for diagnosing CF is the sweat test, which provides results in one hour. Genetic testing is available, but only the most common mutations are screened so a negative test does not always rule out CF.

Genetic testing is available, but only the most common mutations are screened so a negative test does not always rule out CF.

Cystic Fibrosis: Epidemiology

30,000 CF patients in the U.S.; 47% are over age 18.

10 million+ carriers in the U.S. or 1 of every 37 individuals.

Incidence of CF is 1 of every 3,700 U.S. births or about 1,000/year.

Caucasians represent over 90% of patients.

Median life span is now the mid-30s, up from elementary school age in the 1950s.

Males and females are equally affected.

Over 90% of patients eventually die of lung disease.

Treatment

Close attention to and treatment of both respiratory and digestive problems has led to increased life span. Nearly all CF patients, starting as babies, require pancreatic enzymes (such as Creon® or Zenpep®), along with a high calorie, well-balanced diet, special vitamins and supplements.

Respiratory therapy consists of mucolytics (Pulmozyme® to thin and loosen mucus), hypertonic saline (to draw water into airways to move mucus), anti-inflammatories (to slow the rate of pulmonary decline) and inhaled bronchodilators (to widen breathing tubes), which all work to improve lung function, decrease infections and avoid hospital visits. In addition to medications, airway clearance therapy, with chest oscillator vests or other physical methods, is required to help move mucus out of the lungs. CF patients are often on chronic antibiotic therapy, such as tobramycin (TOBI) or Cayston® and other antibiotics as needed. In addition, a new CFTR-modulated therapy, Kalydeco® can help patients with a certain CF mutation. Many CF drugs are administered via a nebulizer and require 20-30 minutes for a treatment.

About 200 CF patients receive a bilateral lung transplant each year, representing 14% of all lung transplants performed annually. Bilateral lung transplants are usually performed in severe or advanced CF, and 5-year survival is 54%, which compares favorably with other transplant recipients.

Some Interesting Facts about Cystic Fibrosis

CF has a very high treatment burden: Mean reported time/day spent on therapy is 108 minutes — even adults report family assistance is required.

98% of CF males are born with bilateral obstructed or absent vas deferens, rendering them infertile (correctable with Assisted Reproduction). Women are fertile.

Even infants with no symptoms and children with normal lung function already have lung damage.

CF patients are discouraged from interacting with other CF patients to avoid acquiring infections. The most common and troublesome is Pseudomonas aeruginosa.

Cystic Fibrosis: Research

There are 91 drugs in Phase 3 clinical development and over 100 in Phase 2. This includes drugs that target numerous CF disease features, such as airway modulation, airway surface liquid restoration, anti-inflammatories and antibiotics, as well as immune modulators and nutritional supplements. Over 20 Phase 1/2 trials utilizing various gene transfer agents have also been conducted.

What Do Patients Say About Cystic Fibrosis?

“With CF, people see a pump or an oxygen tank, and not a person. When my daughter went on a sleep-over, she would have to take pills, an oxygen tank and nebulizer.”

“You know, you get sick of being sick. You get fatigued easily, it’s hard sometimes to keep up with the work that’s needed for school and for life – you are just too tired. CF patients require a lot of calories and a lot of sleep.”

“This girl is on so much. She needs antibiotics, enzymes and insulin for CF, but she also had a transplant and needs anti-rejection drugs. All these drugs have side effects and she has developed high blood pressure and cholesterol problems. She’s only 19 years old.”

To learn more about the ‘Patients’ Perspective,’ Drug Market Info will gladly put you in touch with patients and clinicians who can share their experiences.

Every Cystic Fibrosis Market Info report you purchase generates a donation to the Boomer Esiason Foundation.

The Boomer Esiason Foundation is a dynamic partnership of leaders in the medical and business communities joining with a committed core of volunteers to heighten awareness, education and the quality of life for those affected by Cystic Fibrosis, while providing financial support to research aimed at finding a cure.